Facioscapulohumeral muscular dystrophy type 1 combined with becker muscular dystrophy: a family case report.

Facioscapulohumeral muscular dystrophy type 1 (FSHD1) and Becker muscular dystrophy (BMD) are distinct disorders caused by different genetic variations and exhibiting different inheritance patterns. The co-occurrence of both conditions within the same family is rare. In this case report, the proband was a 10 year-old boy who presented with eye and mouth orbicular muscles, shoulder and proximal upper and lower limbs weakness.

Development of an interpretable model for foot soft tissue stiffness based on gait plantar pressure analysis.

Purpose: Plantar soft tissue properties affect foot biomechanics during movement. This study aims to explore the relationship between plantar pressure features and soft tissue stiffness through interpretable neural network model. The findings could inform orthotic insole design.

Development of a clinical prediction model for benign and malignant pulmonary nodules with a CTR ≥ 50% utilizing artificial intelligence-driven radiomics analysis.

Objective: In clinical practice, diagnosing the benignity and malignancy of solid-component-predominant pulmonary nodules is challenging, especially when 3D consolidation-to-tumor ratio (CTR) ≥ 50%, as malignant ones are more invasive. This study aims to develop and validate an AI-driven radiomics prediction model for such nodules to enhance diagnostic accuracy.

Methods: Data of 2,591 pulmonary nodules from five medical centers (Zhengzhou People's Hospital, etc.

PROCERA interacts with JACKDAW in gibberellin-enhanced source-sink sucrose partitioning in tomato.

Proper regulation of the source-sink relationship is an effective way to increase crop yield. Gibberellin (GA) is an important regulator of plant growth and development, and physiological evidence has demonstrated that GA can promote source-sink sucrose partitioning. However, the underlying molecular mechanism remains unclear.

Maternal ELL3 loss-of-function leads to oocyte aneuploidy and early miscarriage.

Up to an estimated 10% of women experience miscarriage in their lifetimes. Embryonic aneuploidy is a leading cause for miscarriage, infertility and congenital defects. Here we identify variants of ELL3, a gene encoding a transcription elongation factor, in couples who experienced consecutive early miscarriages due to embryonic aneuploidy.